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Evaluation of Crizotinib Treatment in a Patient With Unresectable GOPC-ROS1 Fusion Agminated Spitz Nevi.
Published in:
2021
By:
- Robertson, Susan J.;
- Orme, Lisa;
- Teixeira, Rodrigo;
- Shamassi, Maryam;
- Newell, Felicity;
- Patch, Ann-Marie;
- Yeh, Iwei;
- Gard, Grace;
- Wilmott, James;
- Jackett, Louise;
- LeBoit, Philip;
- Fellowes, Andrew;
- MacArthur, Grant;
- Fox, Stephen;
- Hayward, Nicholas K.;
- Bastian, Boris;
- Scolyer, Richard;
- Waddell, Nicola;
- Penington, Anthony;
- Shackleton, Mark
Publication type:
journal article
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.
Published in:
EMBO Molecular Medicine, 2009, v. 1, n. 5, p. 280, doi. 10.1002/emmm.200900037
By:
- Rubio-Cabezas, Oscar;
- Puri, Vishwajeet;
- Murano, Incoronata;
- Saudek, Vladimir;
- Semple, Robert K.;
- Dash, Satya;
- Hyden, Caroline S. S.;
- Bottomley, William;
- Vigouroux, Corinne;
- Magré, Jocelyne;
- Raymond-Barker, Philippa;
- Murgatroyd, Peter R.;
- Chawla, Anil;
- Skepper, Jeremy N.;
- Chatterjee, V. Krishna;
- Suliman, Sara;
- Patch, Ann-Marie;
- Agarwal, Anil K.;
- Garg, Abhimanyu;
- Barroso, Inês
Publication type:
Article
Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance.
Published in:
Journal of Pathology, 2015, v. 237, n. 3, p. 363, doi. 10.1002/path.4583
By:
- Saunus, Jodi M;
- Quinn, Michael CJ;
- Patch, Ann‐Marie;
- Pearson, John V;
- Bailey, Peter J;
- Nones, Katia;
- McCart Reed, Amy E;
- Miller, David;
- Wilson, Peter J;
- Al‐Ejeh, Fares;
- Mariasegaram, Mythily;
- Lau, Queenie;
- Withers, Teresa;
- Jeffree, Rosalind L;
- Reid, Lynne E;
- Da Silva, Leonard;
- Matsika, Admire;
- Niland, Colleen M;
- Cummings, Margaret C;
- Bruxner, Timothy JC
Publication type:
Article
Whole exome sequencing of an asbestos-induced wild-type murine model of malignant mesothelioma.
Published in:
2017
By:
- Sneddon, Sophie;
- Patch, Ann-Marie;
- Dick, Ian M.;
- Kazakoff, Stephen;
- Pearson, John V.;
- Waddell, Nicola;
- Allcock, Richard J. N.;
- Holt, Robert A.;
- Robinson, Bruce W. S.;
- Creaney, Jenette
Publication type:
journal article
Discrepancies in tumor mutation burden reporting from sequential endobronchial ultrasound transbronchial needle aspiration samples within single lymph node stations - brief report.
Published in:
Frontiers in Oncology, 2023, p. 01, doi. 10.3389/fonc.2023.1259882
By:
- Fielding, David;
- Dalley, Andrew J.;
- Singh, Mahendra;
- Nandakumar, Lakshmy;
- Lakis, Vanessa;
- Chittoory, Haarika;
- Fairbairn, David;
- Patch, Ann-Marie;
- Kazakoff, Stephen H.;
- Ferguson, Kaltin;
- Bashirzadeh, Farzad;
- Bint, Michael;
- Pahoff, Carl;
- Jung Hwa Son;
- Ryan, Kimberley;
- Hodgson, Alan;
- Sharma, Sowmya;
- Pearson, John V.;
- Waddell, Nicola;
- Lakhani, Sunil R.
Publication type:
Article
Telomere sequence content can be used to determine ALT activity in tumours.
Published in:
Nucleic Acids Research, 2018, v. 46, n. 10, p. 4903, doi. 10.1093/nar/gky297
By:
- Lee, Michael;
- Teber, Erdahl T;
- Holmes, Oliver;
- Nones, Katia;
- Patch, Ann-Marie;
- Dagg, Rebecca A;
- Lau, Loretta M S;
- Lee, Joyce H;
- Napier, Christine E;
- Arthur, Jonathan W
Publication type:
Article
Comprehensive genomic and tumour immune profiling reveals potential therapeutic targets in malignant pleural mesothelioma.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01060-8
By:
- Creaney, Jenette;
- Patch, Ann-Marie;
- Addala, Venkateswar;
- Sneddon, Sophie A.;
- Nones, Katia;
- Dick, Ian M.;
- Lee, Y. C. Gary;
- Newell, Felicity;
- Rouse, Ebony J.;
- Naeini, Marjan M.;
- Kondrashova, Olga;
- Lakis, Vanessa;
- Nakas, Apostolos;
- Waller, David;
- Sharkey, Annabel;
- Mukhopadhyay, Pamela;
- Kazakoff, Stephen H.;
- Koufariotis, Lambros T.;
- Davidson, Aimee L.;
- Ramarao-Milne, Priya
Publication type:
Article
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
Published in:
Nature Genetics, 2014, v. 46, n. 1, p. 61, doi. 10.1038/ng.2826
By:
- Weedon, Michael N;
- Cebola, Inês;
- Patch, Ann-Marie;
- Flanagan, Sarah E;
- De Franco, Elisa;
- Caswell, Richard;
- Rodríguez-Seguí, Santiago A;
- Shaw-Smith, Charles;
- Cho, Candy H-H;
- Allen, Hana Lango;
- Houghton, Jayne A L;
- Roth, Christian L;
- Chen, Rongrong;
- Hussain, Khalid;
- Marsh, Phil;
- Vallier, Ludovic;
- Murray, Anna;
- Ellard, Sian;
- Ferrer, Jorge;
- Hattersley, Andrew T
Publication type:
Article
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.
Published in:
2011
By:
- Flanagan, Sarah E;
- Patch, Ann-Marie;
- Locke, Jonathan M;
- Akcay, Teoman;
- Simsek, Enver;
- Alaei, Mohammadreza;
- Yekta, Zeinab;
- Desai, Meena;
- Kapoor, Ritika R;
- Hussain, Khalid;
- Ellard, Sian
Publication type:
journal article
Whole-Genome-Sequenzierung von Schleimhautmelanomen zeigt diverse Treiber und therapeutische Targets auf.
Published in:
Kompass Onkologie, 2020, v. 7, n. 3, p. 119, doi. 10.1159/000509960
By:
- Newell, Felicity;
- Kong, Yan;
- Wilmott, James S.;
- Johansson, Peter A.;
- Ferguson, Peter M.;
- Cui, Chuanliang;
- Li, Zhongwu;
- Kazakoff, Stephen H.;
- Burke, Hazel;
- Dodds, Tristan J.;
- Patch, Ann-Marie;
- Nones, Katia;
- Tembe, Varsha;
- Shang, Ping;
- van der Weyden, Louise;
- Wong, Kim;
- Holmes, Oliver;
- Lo, Serigne;
- Leonard, Conrad;
- Wood, Scott
Publication type:
Article
Somatic Point Mutation Calling in Low Cellularity Tumors.
Published in:
PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0074380
By:
- Kassahn, Karin S.;
- Holmes, Oliver;
- Nones, Katia;
- Patch, Ann-Marie;
- Miller, David K.;
- Christ, Angelika N.;
- Harliwong, Ivon;
- Bruxner, Timothy J.;
- Xu, Qinying;
- Anderson, Matthew;
- Wood, Scott;
- Leonard, Conrad;
- Taylor, Darrin;
- Newell, Felicity;
- Song, Sarah;
- Idrisoglu, Senel;
- Nourse, Craig;
- Nourbakhsh, Ehsan;
- Manning, Suzanne;
- Wani, Shivangi
Publication type:
Article
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.
Published in:
2009
By:
- Rubio-Cabezas, Oscar;
- Patch, Ann-Marie;
- Minton, Jayne A L;
- Flanagan, Sarah E;
- Edghill, Emma L;
- Hussain, Khalid;
- Balafrej, Amina;
- Deeb, Asma;
- Buchanan, Charles R;
- Jefferson, Ian G;
- Mutair, Angham;
- Neonatal Diabetes International Collaborative Group;
- Hattersley, Andrew T;
- Ellard, Sian
Publication type:
journal article
Injection site vaccinology of a recombinant vaccinia-based vector reveals diverse innate immune signatures.
Published in:
PLoS Pathogens, 2021, v. 17, n. 1, p. 1, doi. 10.1371/journal.ppat.1009215
By:
- Hazlewood, Jessamine E.;
- Dumenil, Troy;
- Le, Thuy T.;
- Slonchak, Andrii;
- Kazakoff, Stephen H.;
- Patch, Ann-Marie;
- Gray, Lesley-Ann;
- Howley, Paul M.;
- Liu, Liang;
- Hayball, John D.;
- Yan, Kexin;
- Rawle, Daniel J.;
- Prow, Natalie A.;
- Suhrbier, Andreas
Publication type:
Article
Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-11107-x
By:
- Newell, Felicity;
- Kong, Yan;
- Wilmott, James S.;
- Johansson, Peter A.;
- Ferguson, Peter M.;
- Cui, Chuanliang;
- Li, Zhongwu;
- Kazakoff, Stephen H.;
- Burke, Hazel;
- Dodds, Tristan J.;
- Patch, Ann-Marie;
- Nones, Katia;
- Tembe, Varsha;
- Shang, Ping;
- van der Weyden, Louise;
- Wong, Kim;
- Holmes, Oliver;
- Lo, Serigne;
- Leonard, Conrad;
- Wood, Scott
Publication type:
Article
Evaluation of Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration (EBUS-TBNA) Samples from Advanced Non-Small Cell Lung Cancer for Whole Genome, Whole Exome and Comprehensive Panel Sequencing.
Published in:
Cancers, 2024, v. 16, n. 4, p. 785, doi. 10.3390/cancers16040785
By:
- Fielding, David;
- Lakis, Vanessa;
- Dalley, Andrew J.;
- Chittoory, Haarika;
- Newell, Felicity;
- Koufariotis, Lambros T.;
- Patch, Ann-Marie;
- Kazakoff, Stephen;
- Bashirzadeh, Farzad;
- Son, Jung Hwa;
- Ryan, Kimberley;
- Steinfort, Daniel;
- Williamson, Jonathan P.;
- Bint, Michael;
- Pahoff, Carl;
- Nguyen, Phan Tien;
- Twaddell, Scott;
- Arnold, David;
- Grainge, Christopher;
- Pattison, Andrew
Publication type:
Article
The Impact of Next Generation Sequencing in Cancer Research.
Published in:
2020
By:
- Nones, Katia;
- Patch, Ann-Marie
Publication type:
Editorial
APC Mutation Marks an Aggressive Subtype of BRAF Mutant Colorectal Cancers.
Published in:
Cancers, 2020, v. 12, n. 5, p. 1171, doi. 10.3390/cancers12051171
By:
- Fennell, Lochlan J.;
- Kane, Alexandra;
- Liu, Cheng;
- McKeone, Diane;
- Fernando, Winnie;
- Su, Chang;
- Bond, Catherine;
- Jamieson, Saara;
- Dumenil, Troy;
- Patch, Ann-Marie;
- Kazakoff, Stephen H.;
- Pearson, John V.;
- Waddell, Nicola;
- Leggett, Barbara;
- Whitehall, Vicki L. J.
Publication type:
Article
Intratumoural Heterogeneity Underlies Distinct Therapy Responses and Treatment Resistance in Glioblastoma.
Published in:
Cancers, 2019, v. 11, n. 2, p. 190, doi. 10.3390/cancers11020190
By:
- Akgül, Seçkin;
- Patch, Ann-Marie;
- D'Souza, Rochelle C.J.;
- Mukhopadhyay, Pamela;
- Nones, Katia;
- Kempe, Sarah;
- Kazakoff, Stephen H.;
- Jeffree, Rosalind L.;
- Stringer, Brett W.;
- Pearson, John V.;
- Waddell, Nicola;
- Day, Bryan W.
Publication type:
Article
Rfx6 directs islet formation and insulin production in mice and humans.
Published in:
Nature, 2010, v. 463, n. 7282, p. 775, doi. 10.1038/nature08748
By:
- Smith, Stuart B.;
- Hui-Qi Qu;
- Taleb, Nadine;
- Kishimoto, Nina Y.;
- Scheel, David W.;
- Yang Lu;
- Patch, Ann-Marie;
- Grabs, Rosemary;
- Juehu Wang;
- Lynn, Francis C.;
- Miyatsuka, Takeshi;
- Mitchell, John;
- Seerke, Rina;
- Désir, Julie;
- Eijnden, Serge Vanden;
- Abramowicz, Marc;
- Kacet, Nadine;
- Weill, Jacques;
- Renard, Marie-Ève;
- Gentile, Mattia
Publication type:
Article
DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical association.
Published in:
Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-020-01469-0
By:
- Lakis, Vanessa;
- Lawlor, Rita T.;
- Newell, Felicity;
- Patch, Ann-Marie;
- Mafficini, Andrea;
- Sadanandam, Anguraj;
- Koufariotis, Lambros T.;
- Johnston, Rebecca L.;
- Leonard, Conrad;
- Wood, Scott;
- Rusev, Borislav;
- Corbo, Vincenzo;
- Luchini, Claudio;
- Cingarlini, Sara;
- Landoni, Luca;
- Salvia, Roberto;
- Milella, Michele;
- Chang, David;
- Bailey, Peter;
- Jamieson, Nigel B.
Publication type:
Article
Complex structural rearrangements are present in high-grade dysplastic Barrett's oesophagus samples.
Published in:
BMC Medical Genomics, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s12920-019-0476-9
By:
- Newell, Felicity;
- Patel, Kalpana;
- Gartside, Michael;
- Krause, Lutz;
- Brosda, Sandra;
- Aoude, Lauren G.;
- Loffler, Kelly A.;
- Bonazzi, Vanessa F.;
- Patch, Ann-Marie;
- Kazakoff, Stephen H.;
- Holmes, Oliver;
- Xu, Qinying;
- Wood, Scott;
- Leonard, Conrad;
- Lampe, Guy;
- Lord, Reginald V.;
- Whiteman, David C.;
- Pearson, John V.;
- Nones, Katia;
- Waddell, Nicola
Publication type:
Article
Identification of the CIMP-like subtype and aberrant methylation of members of the chromosomal segregation and spindle assembly pathways in esophageal adenocarcinoma.
Published in:
Carcinogenesis, 2016, v. 37, n. 4, p. 356, doi. 10.1093/carcin/bgw018
By:
- Krause, Lutz;
- Nones, Katia;
- Loffler, Kelly A.;
- Nancarrow, Derek;
- Oey, Harald;
- Yue Hang Tang;
- Wayte, Nicola J.;
- Patch, Ann Marie;
- Patel, Kalpana;
- Brosda, Sandra;
- Manning, Suzanne;
- Lampe, Guy;
- Clouston, Andrew;
- Thomas, Janine;
- Stoye, Jens;
- Hussey, Damian J.;
- Watson, David I.;
- Lord, Reginald V.;
- Phillips, Wayne A.;
- Gotley, David
Publication type:
Article
A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.
Published in:
Nature Communications, 2015, v. 6, n. 12, p. 10001, doi. 10.1038/ncomms10001
By:
- Alioto, Tyler S.;
- Buchhalter, Ivo;
- Derdak, Sophia;
- Hutter, Barbara;
- Eldridge, Matthew D.;
- Hovig, Eivind;
- Heisler, Lawrence E.;
- Beck, Timothy A.;
- Simpson, Jared T.;
- Tonon, Laurie;
- Sertier, Anne-Sophie;
- Patch, Ann-Marie;
- Jäger, Natalie;
- Ginsbach, Philip;
- Drews, Ruben;
- Paramasivam, Nagarajan;
- Kabbe, Rolf;
- Chotewutmontri, Sasithorn;
- Diessl, Nicolle;
- Previti, Christopher
Publication type:
Article
Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis.
Published in:
Nature Communications, 2014, v. 5, n. 10, p. 5224, doi. 10.1038/ncomms6224
By:
- Nones, Katia;
- Waddell, Nicola;
- Wayte, Nicci;
- Patch, Ann-Marie;
- Bailey, Peter;
- Newell, Felicity;
- Holmes, Oliver;
- Fink, J. Lynn;
- Quinn, Michael C. J.;
- Tang, Yue Hang;
- Lampe, Guy;
- Quek, Kelly;
- Loffler, Kelly A.;
- Manning, Suzanne;
- Idrisoglu, Senel;
- Miller, David;
- Xu, Qinying;
- Waddell, Nick;
- Wilson, Peter J.;
- Bruxner, Timothy J. C.
Publication type:
Article
Whole genome sequencing of melanomas in adolescent and young adults reveals distinct mutation landscapes and the potential role of germline variants in disease susceptibility.
Published in:
International Journal of Cancer, 2019, v. 144, n. 5, p. 1049, doi. 10.1002/ijc.31791
By:
- Wilmott, James S.;
- Johansson, Peter A.;
- Newell, Felicity;
- Waddell, Nicola;
- Ferguson, Peter;
- Quek, Camelia;
- Patch, Ann‐Marie;
- Nones, Katia;
- Shang, Ping;
- Pritchard, Antonia L.;
- Kazakoff, Stephen;
- Holmes, Oliver;
- Leonard, Conrad;
- Wood, Scott;
- Xu, Qinying;
- Saw, Robyn P. M.;
- Spillane, Andrew J.;
- Stretch, Jonathan R.;
- Shannon, Kerwin F.;
- Kefford, Richard F.
Publication type:
Article
Genome-wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT-ROBO, ITGA2 and MET signaling.
Published in:
International Journal of Cancer, 2014, v. 135, n. 5, p. 1110, doi. 10.1002/ijc.28765
By:
- Nones, Katia;
- Waddell, Nic;
- Song, Sarah;
- Patch, Ann‐Marie;
- Miller, David;
- Johns, Amber;
- Wu, Jianmin;
- Kassahn, Karin S.;
- Wood, David;
- Bailey, Peter;
- Fink, Lynn;
- Manning, Suzanne;
- Christ, Angelika N.;
- Nourse, Craig;
- Kazakoff, Stephen;
- Taylor, Darrin;
- Leonard, Conrad;
- Chang, David K.;
- Jones, Marc D.;
- Thomas, Michelle
Publication type:
Article
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
Published in:
2008
By:
- Edghill, Emma L;
- Flanagan, Sarah E;
- Patch, Ann-Marie;
- Boustred, Chris;
- Parrish, Andrew;
- Shields, Beverley;
- Shepherd, Maggie H;
- Hussain, Khalid;
- Kapoor, Ritika R;
- Malecki, Maciej;
- MacDonald, Michael J;
- Støy, Julie;
- Steiner, Donald F;
- Philipson, Louis H;
- Bell, Graeme I;
- Neonatal Diabetes International Collaborative Group;
- Hattersley, Andrew T;
- Ellard, Sian
Publication type:
journal article
Insulin Mutation Screening in 1,044 Patients With Diabetes.
Published in:
Diabetes, 2008, v. 57, n. 4, p. 1034, doi. 10.2337/db07-1405
By:
- Edghill, Emma L.;
- Flanagan, Sarah E.;
- Patch, Ann-Marie;
- Boustred, Chris;
- Parrish, Andrew;
- Shields, Beverley;
- Shepherd, Maggie H.;
- Hussain, Khalid;
- Kapoor, Ritika R.;
- Malecki, Maciej;
- MacDonald, Michael J.;
- Støy, Julie;
- Steiner, Donald F.;
- Philipson, Louis H.;
- Bell, Graeme I.;
- Hattersley, Andrew T.;
- Ellard, Sian
Publication type:
Article
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
Published in:
2007
By:
- Flanagan SE;
- Patch AM;
- Mackay DJ;
- Edghill EL;
- Gloyn AL;
- Robinson D;
- Shield JP;
- Temple K;
- Ellard S;
- Hattersley AT;
- Flanagan, Sarah E;
- Patch, Ann-Marie;
- Mackay, Deborah J G;
- Edghill, Emma L;
- Gloyn, Anna L;
- Robinson, David;
- Shield, Julian P H;
- Temple, Karen;
- Ellard, Sian;
- Hattersley, Andrew T
Publication type:
journal article
Mutations in ATP-Sensitive K[sup +] Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood.
Published in:
Diabetes, 2007, v. 56, n. 7, p. 1930, doi. 10.2337/db07-0043
By:
- Flanagan, Sarah E.;
- Patch, Ann-Marie;
- Mackay, Deborah J. G.;
- Edghill, Emma L.;
- Gloyn, Anna L.;
- Robinson, David;
- Shield, Julian P. H.;
- Temple, Karen;
- Ellard, Sian;
- Hattersley, Andrew T.
Publication type:
Article
Corrigendum: Whole-genome characterization of chemoresistant ovarian cancer.
Published in:
2015
By:
- Patch, Ann-Marie;
- Christie, Elizabeth L.;
- Etemadmoghadam, Dariush;
- Garsed, Dale W.;
- George, Joshy;
- Fereday, Sian;
- Nones, Katia;
- Cowin, Prue;
- Alsop, Kathryn;
- Bailey, Peter J.;
- Kassahn, Karin S.;
- Newell, Felicity;
- Quinn, Michael C. J.;
- Kazakoff, Stephen;
- Quek, Kelly;
- Wilhelm-Benartzi, Charlotte;
- Curry, Ed;
- Leong, Huei San;
- Hamilton, Anne;
- Mileshkin, Linda
Publication type:
Correction Notice
Whole-genome characterization of chemoresistant ovarian cancer.
Published in:
Nature, 2015, v. 521, n. 7553, p. 489, doi. 10.1038/nature14410
By:
- Patch, Ann-Marie;
- Christie, Elizabeth L.;
- Etemadmoghadam, Dariush;
- Garsed, Dale W.;
- George, Joshy;
- Fereday, Sian;
- Nones, Katia;
- Cowin, Prue;
- Alsop, Kathryn;
- Bailey, Peter J.;
- Kassahn, Karin S.;
- Newell, Felicity;
- Quinn, Michael C. J.;
- Kazakoff, Stephen;
- Quek, Kelly;
- Wilhelm-Benartzi, Charlotte;
- Curry, Ed;
- Leong, Huei San;
- Hamilton, Anne;
- Mileshkin, Linda
Publication type:
Article
Whole-genome characterization of chemoresistant ovarian cancer.
Published in:
Nature, 2015, v. 521, n. 7553, p. 489, doi. 10.1038/nature14410
By:
- Patch, Ann-Marie;
- Christie, Elizabeth L.;
- Etemadmoghadam, Dariush;
- Garsed, Dale W.;
- George, Joshy;
- Fereday, Sian;
- Nones, Katia;
- Cowin, Prue;
- Alsop, Kathryn;
- Bailey, Peter J.;
- Kassahn, Karin S.;
- Newell, Felicity;
- Quinn, Michael C. J.;
- Kazakoff, Stephen;
- Quek, Kelly;
- Wilhelm-Benartzi, Charlotte;
- Curry, Ed;
- Leong, Huei San;
- Hamilton, Anne;
- Mileshkin, Linda
Publication type:
Article
Whole genomes redefine the mutational landscape of pancreatic cancer.
Published in:
Nature, 2015, v. 518, n. 7540, p. 495, doi. 10.1038/nature14169
By:
- Waddell, Nicola;
- Pajic, Marina;
- Patch, Ann-Marie;
- Chang, David K.;
- Kassahn, Karin S.;
- Bailey, Peter;
- Johns, Amber L.;
- Miller, David;
- Nones, Katia;
- Quek, Kelly;
- Quinn, Michael C. J.;
- Robertson, Alan J.;
- Fadlullah, Muhammad Z. H.;
- Bruxner, Tim J. C.;
- Christ, Angelika N.;
- Harliwong, Ivon;
- Idrisoglu, Senel;
- Manning, Suzanne;
- Nourse, Craig;
- Nourbakhsh, Ehsan
Publication type:
Article
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.
Published in:
Nature, 2012, v. 491, n. 7424, p. 399, doi. 10.1038/nature11547
By:
- Biankin, Andrew V.;
- Waddell, Nicola;
- Kassahn, Karin S.;
- Gingras, Marie-Claude;
- Muthuswamy, Lakshmi B.;
- Johns, Amber L.;
- Miller, David K.;
- Wilson, Peter J.;
- Patch, Ann-Marie;
- Wu, Jianmin;
- Chang, David K.;
- Cowley, Mark J.;
- Gardiner, Brooke B.;
- Song, Sarah;
- Harliwong, Ivon;
- Idrisoglu, Senel;
- Nourse, Craig;
- Nourbakhsh, Ehsan;
- Manning, Suzanne;
- Wani, Shivangi
Publication type:
Article
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
Published in:
Pediatric Diabetes, 2012, v. 13, n. 4, p. 307, doi. 10.1111/j.1399-5448.2012.00855.x
By:
- Shaw-Smith, Charles;
- Flanagan, Sarah E;
- Patch, Ann-Marie;
- Grulich-Henn, Juergen;
- Habeb, Abdelhadi M;
- Hussain, Khalid;
- Pomahacova, Renata;
- Matyka, Krystyna;
- Abdullah, Mohamed;
- Hattersley, Andrew T;
- Ellard, Sian
Publication type:
Article
Neonatal diabetes mellitus due to pancreas agenesis: a new case report and review of the literature.
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Pediatric Diabetes, 2009, v. 10, n. 7, p. 487, doi. 10.1111/j.1399-5448.2009.00523.x
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- Haslinger, Vera;
- Schmidt, Katerina;
- Patch, Ann-Marie;
- Müller, Guido;
- Simma, Burkhard
Publication type:
Article
qmotif: determination of telomere content from whole-genome sequence data.
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Bioinformatics Advances, 2022, v. 2, n. 1, p. 1, doi. 10.1093/bioadv/vbac005
By:
- Holmes, Oliver;
- Nones, Katia;
- Tang, Yue Hang;
- Loffler, Kelly A;
- Lee, Michael;
- Patch, Ann-Marie;
- Dagg, Rebecca A;
- Lau, Loretta M S;
- Leonard, Conrad;
- Wood, Scott;
- Xu, Qinying;
- Pickett, Hilda A;
- Reddel, Roger R;
- Barbour, Andrew P;
- Grimmond, Sean M;
- Waddell, Nicola;
- Pearson, John V
Publication type:
Article
Clinical and molecular characterization of HER2 amplified-pancreatic cancer.
Published in:
Genome Medicine, 2013, v. 5, n. 8, p. 1, doi. 10.1186/gm482
By:
- Chou, Angela;
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- Gill, Anthony J.;
- Chang, David K.;
- Patch, Ann-Marie;
- Nones, Katia;
- Wu, Jianmin;
- Pinese, Mark;
- Johns, Amber L.;
- Miller, David K.;
- Kassahn, Karin S.;
- Nagrial, Adnan M.;
- Wasan, Harpreet;
- Goldstein, David;
- Toon, Christopher W.;
- Chin, Venessa;
- Chantrill, Lorraine;
- Humphris, Jeremy;
- Scott Mead, R.
Publication type:
Article
Mutation load in melanoma is affected by MC1R genotype.
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Pigment Cell & Melanoma Research, 2017, v. 30, n. 2, p. 255, doi. 10.1111/pcmr.12571
By:
- Johansson, Peter A.;
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- Patch, Ann ‐ Marie;
- Wilmott, James S.;
- Pearson, John V.;
- Waddell, Nicola;
- Scolyer, Richard A.;
- Mann, Graham J.;
- Hayward, Nicholas K.
Publication type:
Article
Evaluating Diff‐Quik cytology smears for large‐panel mutation testing in lung cancer—Predicting DNA content and success with low‐malignant‐cellularity samples.
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Cancer Cytopathology, 2023, v. 131, n. 6, p. 373, doi. 10.1002/cncy.22690
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- Fielding, David I.;
- Dalley, Andrew J.;
- Singh, Mahendra;
- Nandakumar, Lakshmy;
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- Fairbairn, David;
- Patch, Ann‐Marie;
- Kazakoff, Stephen H.;
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- Son, Jung Hwa;
- Hodgson, Alan;
- Sharma, Sowmya;
- Waddell, Nicola;
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- Hartel, Gunter;
- Nones, Katia
Publication type:
Article
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.
Published in:
2008
By:
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- Flanagan, Sarah E;
- Patch, Ann-Marie;
- Shields, Beverley M;
- Ellard, Sian;
- Hattersley, Andrew T
Publication type:
journal article
Effective Treatment With Oral Sulfonylureas in Patients With Diabetes Due to Sulfonylurea Receptor 1 (SUR1) Mutations.
Published in:
Diabetes Care, 2008, v. 31, n. 2, p. 204, doi. 10.2337/dc07-1785
By:
- Rafiq, Meena;
- Flanagan, Sarah E.;
- Patch, Ann-Marie;
- Shields, Beverley M.;
- Ellard, Sian;
- Hattersley, Andrew T.
Publication type:
Article
Mutations in the ABCC8 (SUR1 subunit of the K<sub>ATP</sub> channel) gene are associated with a variable clinical phenotype.
Published in:
Clinical Endocrinology, 2009, v. 71, n. 3, p. 358, doi. 10.1111/j.1365-2265.2008.03478.x
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- Klupa, Tomasz;
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- Patch, Ann-Marie;
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- Noczynska, Anna;
- Arciszewska, Malgorzata;
- Ellard, Sian;
- Hattersley, Andrew T.;
- Sieradzki, Jacek;
- Mlynarski, Wojciech;
- Malecki, Maciej T.
Publication type:
Article
Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity.
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Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-18988-3
By:
- Newell, Felicity;
- Wilmott, James S.;
- Johansson, Peter A.;
- Nones, Katia;
- Addala, Venkateswar;
- Mukhopadhyay, Pamela;
- Broit, Natasa;
- Amato, Carol M.;
- Van Gulick, Robert;
- Kazakoff, Stephen H.;
- Patch, Ann-Marie;
- Koufariotis, Lambros T.;
- Lakis, Vanessa;
- Leonard, Conrad;
- Wood, Scott;
- Holmes, Oliver;
- Xu, Qinying;
- Lewis, Karl;
- Medina, Theresa;
- Gonzalez, Rene
Publication type:
Article
Lost in translation: returning germline genetic results in genome-scale cancer research.
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Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0430-4
By:
- Johns, Amber L.;
- McKay, Skye H.;
- Humphris, Jeremy L.;
- Pinese, Mark;
- Chantrill, Lorraine A.;
- Mead, R. Scott;
- Tucker, Katherine;
- Andrews, Lesley;
- Goodwin, Annabel;
- Leonard, Conrad;
- High, Hilda A.;
- Nones, Katia;
- Patch, Ann-Marie;
- Merrett, Neil D.;
- Pavlakis, Nick;
- Kassahn, Karin S.;
- Samra, Jaswinder S.;
- Miller, David K.;
- Chang, David K.;
- Pajic, Marina
Publication type:
Article
Germline and somatic variant identification using BGISEQ-500 and HiSeq X Ten whole genome sequencing.
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PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0190264
By:
- Patch, Ann-Marie;
- Nones, Katia;
- Kazakoff, Stephen H.;
- Newell, Felicity;
- Wood, Scott;
- Leonard, Conrad;
- Holmes, Oliver;
- Xu, Qinying;
- Addala, Venkateswar;
- Creaney, Jenette;
- Robinson, Bruce W.;
- Fu, Shujin;
- Geng, Chunyu;
- Li, Tong;
- Zhang, Wenwei;
- Liang, Xinming;
- Rao, Junhua;
- Wang, Jiahao;
- Tian, Mingyu;
- Zhao, Yonggang
Publication type:
Article

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